Leigh Syndrome
Conditions
Keywords
Leigh syndrome, Mitochondrial disorders, EPI743, Vincerinone
Brief summary
EPI-743 in Leigh syndrome participants that participated in previous EPI743-12-002 (NCT01721733) study.
Detailed description
To monitor the long-term safety and neurodevelopmental effects of EPI-743 on children who complete the EPI743-12-002 placebo-controlled trial.
Interventions
DRUGEPI-743
EPI-743 100 milligrams/milliliter (mg/mL) oral solution will be administered per dose and schedule specified in the arm.
Sponsors
PTC Therapeutics
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
1 Years to 18 Years
Healthy volunteers
No
Inclusion criteria
1. Diagnosis of Leigh syndrome with genetic confirmation 2. Completion of EPI743-12-002 protocol and initiation of treatment within 14 days of Month 12 visit in EPI743-12-002 study 3. Participant or participant's guardian able to consent and comply with protocol requirements 4. Continued abstention from supplements excluded in EPI743-12-002 study 5. Botox® is allowed if approved by the sponsor
Exclusion criteria
1. Allergy to EPI-743 or sesame oil 2. Allergy to vitamin E 3. Clinical history of bleeding or abnormal baseline prothrombin time (PT)/partial thromboplastin time (PTT) 4. Hepatic insufficiency with liver function tests (LFTs) greater than two times upper limit of normal 5. Renal insufficiency requiring dialysis 6. End-stage cardiac failure 7. Fat malabsorption syndromes precluding drug absorption 8. Use of anticoagulant medications 9. Participation in other clinical research studies/taking other experimental agents 10. Participation in elective procedures that required sedation
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Disease Severity as Measured by Newcastle Pediatric Mitochondrial Disease Scale (NPMDS) Sections 1-3 Score | Baseline up to Month 36 | NPMDS is a validated scale to assess the mitochondrial disease progression. |
| Number of Participants With Dose-Limiting Serious Adverse Events (SAEs) | Baseline up to Month 36 | — |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Barry-Albright Dystonia Scale Score | Baseline up to Month 24 | Neuromuscular function will be assessed by Barry-Albright Dystonia Scale score. |
| Gross Motor Function Measure | Baseline up to Month 24 | Neuromuscular function will be assessed by gross motor function measure. |
| Awake Oxygen Saturation Levels | Baseline up to Month 24 | Effect of EPI-743 on respiratory function will be measured by awake oxygen saturation levels. |
| Total Ventilator Days and Total Intensive Care Unit Days | Baseline up to Month 24 | — |
| Bayley Scales of Infant Development-III Score (Participants Age 0-3) | Baseline up to Month 24 | Effect of EPI-743 on neurodevelopment will be measured by Bayley Scales of Infant Development-III score. |
| Total Number of Mortalities, Medical Encounters, Hospitalizations, and Hospital Days | Baseline up to Month 24 | — |
| Health-Related Quality of Life as Measured by NPMDS Section 4 Score | Baseline up to Month 24 | — |
| Glutathione Cycle Biomarkers Level | Baseline up to Month 24 | — |
| Number of Participants With Pneumonia Episodes and Tracheostomy | Baseline up to Month 24 | — |
| Wechsler Scale of Intelligence and Movement Assessment Battery Score for Children (Participants Age 4-18) | Baseline up to Month 24 | Effect of EPI-743 on neuromuscular function will be assessed by Wechsler Scale of Intelligence and Movement Assessment Battery score. |
Countries
United States
Outcome results
None listed